Marfanszindróma

Marfanszindróma is a genetic disorder that affects the body's connective tissue. Connective tissue is a group of tissues that help support and hold together other tissues and organs in the body. Marfanszindróma is caused by a mutation in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is a component of elastic fibers, which give connective tissue its strength and flexibility.

The signs and symptoms of Marfanszindróma can vary widely among individuals, even within the same family. Some people may have only mild symptoms, while others may experience severe and life-threatening complications. The disorder can affect multiple parts of the body, including the eyes, heart, blood vessels, bones, and lungs.

Common features of Marfanszindróma include tall stature, long limbs and fingers, and a chest that either protrudes or is sunken in. Eye problems, such as dislocation of the lens or an increased risk of glaucoma and cataracts, are also frequently seen. Cardiovascular complications, particularly problems with the aorta and heart valves, are the most serious aspect of Marfanszindróma and can lead to life-threatening conditions like aortic dissection or rupture.

There is no cure for Marfanszindróma, but treatments are available to manage the symptoms and prevent complications. Regular monitoring by healthcare professionals is crucial for individuals diagnosed with the condition. Management often involves medications to control blood pressure and reduce strain on the aorta, as well as surgery to repair or replace affected heart valves or the aorta. Early diagnosis and consistent medical care can significantly improve the prognosis and quality of life for people with Marfanszindróma.